OMIA 001683-9615 : Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in Canis lupus familiaris |
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2012
Species-specific name:
Dry eye curly coat syndrome
Species-specific symbol:
CKCSID
Mapping:
By conducting a GWAS on 23 affected and 38 control Cavalier King Charles Spaniels, each genotyped with the Illumina Canine HD SNP chip (yielding 91,427 SNPs for analysis), Forman et al. (2012) highlighted a region on chromosome CFA13.
Molecular basis:
By sequencing their candidate region (see Mapping section) in affected and normal dogs, Forman et al. (2012) eventually revealed the causative mutation as a "single base deletion in exon 5" in a gene with the somewhat unusual name of Family with sequence similarity 83, member H (FAM83H). Using the genetic variant nomenclature as of 2015, the cuastaive variant can be descripted as c.977delC or p.Pro326Hisfs*258.
Breed:
Cavalier King Charles Spaniel.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| FAM83H | family with sequence similarity 83, member H | Canis lupus familiaris | 13 | NC_006595.3 (37332421..37324090) | FAM83H | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cavalier King Charles Spaniel | Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis | FAM83H | deletion, small (<=20) | c.977delC | p.Pro326Hisfs*258 | 2012 | 22253609 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2019 | Lewis, T.W., Mellersh, C.S. : | |
| Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864, 2019. Pubmed reference: 30650096. DOI: 10.1371/journal.pone.0209864. | ||
| 2017 | Guandalini, A., Di Girolamo, N., Corvi, R., Santillo, D., Andreani, V., Pinzo, B. : | |
| Epidemiology of ocular disorders presumed to be inherited in three small Italian dog breeds in Italy. Vet Ophthalmol :, 2017. Pubmed reference: 29284193. DOI: 10.1111/vop.12542. | ||
| 2012 | Forman, O.P., Penderis, J., Hartley, C., Hayward, L.J., Ricketts, S.L., Mellersh, C.S. : | |
| Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed. PLoS Genet 8:e1002462, 2012. Pubmed reference: 22253609. DOI: 10.1371/journal.pgen.1002462. | ||
| Hartley, C., Barnett, K.C., Pettitt, L., Forman, O.P., Blott, S., Mellersh, C.S. : | ||
| Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in Cavalier King Charles spaniel dogs. Part II: candidate gene study. Vet Ophthalmol 15:327-32, 2012. Pubmed reference: 22339941. DOI: 10.1111/j.1463-5224.2012.00987.x. | ||
| Hartley, C., Donaldson, D., Smith, K.C., Henley, W., Lewis, T.W., Blott, S., Mellersh, C., Barnett, K.C. : | ||
| Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in 25 Cavalier King Charles spaniel dogs. Part I: clinical signs, histopathology, and inheritance. Vet Ophthalmol 15:315-26, 2012. Pubmed reference: 22212237. DOI: 10.1111/j.1463-5224.2011.00986.x. | ||
| 2006 | Barnett, K.C. : | |
| Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in the cavalier King Charles spaniel. J Small Anim Pract 47:524-8, 2006. Pubmed reference: 16961470. DOI: 10.1111/j.1748-5827.2006.00107.x. |
Edit History
- Created by Frank Nicholas on 16 Jan 2012
- Changed by Frank Nicholas on 26 Jan 2012
- Changed by Frank Nicholas on 26 Jan 2013
- Changed by Frank Nicholas on 20 May 2013
- Changed by Tosso Leeb on 24 Dec 2015